MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT001163

UniProt Annotations

Entry Information

Gene Name	dehydrogenase E1 and transketolase domain containing 1
Protein Entry	DHTK1_HUMAN
UniProt ID	Q96HY7
Species	Human

Comments

Comment type	Description
Catalytic Activity	2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).
Cofactor	Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence={ECO:0000250};
Disease	2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2- oxoadipate and 2-hydroxyadipate in the urine, and elevated 2- aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269\|PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269\|PubMed:23141294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity). {ECO:0000250}.
Sequence Caution	Sequence=BAB13456.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the neighboring gene.; Evidence={ECO:0000305};
Similarity	Belongs to the alpha-ketoglutarate dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:23141294}.